ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His) (rs377388499)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000221830 SCV000270142 likely benign not specified 2015-09-30 criteria provided, single submitter clinical testing p.Arg4300His in exon 78 of DNAH11: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. O f note, 5 mammals including the Egyptian jerboa, white rhinoceros, David's myoti s (bat), microbat and big brown bat have a histidine (His) at this position. In addition, it has been seen in 0.22% (34/15800) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNPrs3773 88499).
Illumina Clinical Services Laboratory,Illumina RCV000349165 SCV000468231 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000349165 SCV001000660 likely benign Primary ciliary dyskinesia 2019-12-31 criteria provided, single submitter clinical testing

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